目的:研究华东地区汉族人常染色体显性遗传性多囊肾病(adpkd)基因型与临床表现型的关系。
Objective: to analyze the relationship between the genotype and phenotype of autosomal dominant polycystic kidney disease (ADPKD) in Han nationality in East China.
由于各种复杂因素的影响,常染色体显性遗传的杂合子有可能出现不同的表现型,本文阐述了常染色体显性遗传的几种类型。
Owing to the influence of various complex factors, it is possible for the heterozygote of autosomal dominant inheritance to appear in different phenotypes.
方法选择ldh患者717例,采用血型群体遗传学及血型血清学方法,进行ABO血型表现型及基因频率分布等调查分析。
Methods Using serological way, 717 patients with LDH were investigated on the phenotype and the genetic frequency distribution of ABO blood type.
与遗传有关的先天性白内障有多种遗传方式,其致病基因、 基因突变的位点和引起先天性白内障的表现型相继被发现。
There are three kinds of inherited patterns including autosomal dominant, autosomal recessive and X-linked recessive in inherited congenital cataract.
尽管DNA序列相同,单合子的双胞胎或者克隆的动物如何有不同的表现型和对同一疾病不同的易感性,经典的遗传学也不能解释。
Nor does classic genetics explain how, despite their identical DNA sequences, monozygotic twins1 or cloned animals2 can have different phenotypes and different susceptibilities to a disease.
单倍型分析显示先证者及女儿具有相同的致病单倍型。结论报道了中国人常染色体显性遗传ed MD患者的表现型及基因型。
Haplotype analysis indicated that the proband and her daughter Shared the same causative haplotype. Conclusion This is the first report of the phenotype and genotype of AD-EDMD in Chinese.
秆长的表现型值及其CRI值受少数主效基因控制,具有较高的狭义遗传力。
Culm length and its CRI were affected by a few major genes, and these traits had high narrow-sense heritability.
方法选择鲁中南地区先天性心脏病患者444例,采用血型群体遗传学及血型血清学方法,进行ABO血型表现型及基因频率分布调查统计。
Methods ABO phenotype and its genetic distribution were investigated in 444 patients with congenital heart disease in center of south region of shandong via blood type genetics and serology.
方法选择鲁中南地区先天性心脏病患者444例,采用血型群体遗传学及血型血清学方法,进行ABO血型表现型及基因频率分布调查统计。
Methods ABO phenotype and its genetic distribution were investigated in 444 patients with congenital heart disease in center of south region of shandong via blood type genetics and serology.
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